Canonical Allele Identifier: CA341398195
Gene: HSD3B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.119964867T>A (hg19) chr1:g.119422244T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422244T>A , CM000663.2:g.119422244T>A GRCh38
NC_000001.10:g.119964867T>A , CM000663.1:g.119964867T>A GRCh37
NC_000001.9:g.119766390T>A NCBI36
NG_013349.1:g.12314T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.743T>A MANE Select ENSP00000358424.3:p.Val248Asp
ENST00000369416.3:c.743T>A ENSP00000358424.3:p.Val248Asp
ENST00000543831.5:c.743T>A ENSP00000445122.1:p.Val248Asp
NM_000198.3:c.743T>A NP_000189.1:p.Val248Asp
NM_001166120.1:c.743T>A NP_001159592.1:p.Val248Asp
NM_000198.4:c.743T>A MANE Select NP_000189.1:p.Val248Asp
NM_001166120.2:c.743T>A NP_001159592.1:p.Val248Asp
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